1. Mary-Claire,King 美国 University of Washington 1994美国医学院院士;2005美国科学院院士;2014拉斯克奖 Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder
2. Mary-Claire,King 美国 University of Washington 1994美国医学院院士;2005美国科学院院士;2014拉斯克奖 Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel h..
3. Mary-Claire,King 美国 University of Washington 1994美国医学院院士;2005美国科学院院士;2014拉斯克奖 Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes i..
4. Smith, Richard J. H. 美国 University of Iowa 2006美国医学院院士 Single-cell RNA-sequencing of stria vascularis cells in the adult Slc26a4-/- mouse
5. Smith, Richard J. H. 美国 University of Iowa 2006美国医学院院士 Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafne..
6. Lupski, James R. 美国 Baylor College of Medicine 2002美国医学院院士 SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated wit..
7. Smith, Richard J. H. 美国 University of Iowa 2006美国医学院院士 De novo variants are a common cause of genetic hearing loss
8. Gantz, Bruce J. 美国 The University of Iowa 2000美国医学院院士 Genetic Causes of Hearing Loss in a Large Cohort of Cochlear Implant Recipients
9. Smith, Richard J. H. 美国 University of Iowa 2006美国医学院院士 Genetic Causes of Hearing Loss in a Large Cohort of Cochlear Implant Recipients
10. Smith, Richard J. H. 美国 University of Iowa 2006美国医学院院士 AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss
11. Gleeson, Joseph G. 美国 University of California, San Diego 2013美国医学院院士 Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapi..
12. 王恩多 中国 中国科学院 中国科学院院士 Distinct pathogenic mechanisms of various RARS1 mutations in Pelizaeus-Merzbacher-like disease
13. Berkovic, Samuel F. 澳大利亚 University of Melbourne 2017美国医学院院士 Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individ..
14. Lowenstein, Daniel H. 美国 University of California, San Francisco 2017美国医学院院士 Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individ..
15. Smith, Richard J. H. 美国 University of Iowa 2006美国医学院院士 A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessiv..
16. Robert Fettiplace 美国 University of Wisconsin-Madison 2021美国科学院院士 New Tmc1 Deafness Mutations Impact Mechanotransduction in Auditory Hair Cells
17. Rader, Daniel J. 美国 University of Pennsylvania School of Medicine 2011美国医学院院士 Genetics of Postlingual Sensorineural Hearing Loss
18. Smith, Richard J. H. 美国 University of Iowa 2006美国医学院院士 Future directions for screening and treatment in congenital hearing loss
19. 王恩多 中国 中国科学院 中国科学院院士 Hearing impairment-associated KARS mutations lead to defects in aminoacylation of both cytoplasmic a..
20. Smith, Richard J. H. 美国 University of Iowa 2006美国医学院院士 DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?